A 29-Year-Old Female With Hereditary Coproporphyria and New-Onset Seizures

Sabrina S. Sam, Karel T. S. Valenta, Joshua J. Baiel

Abstract

Hereditary coproporphyria (HCP) by itself can pose significant diagnostic and management difficulties. Together with seizures and renal failure, management can be even more challenging. This poses a dilemma with treatment and requires a unique approach. Our patient is a 29-year-old Caucasian female with HCP who presented with new-onset seizures, diffuse abdominal pain and significant anion gap metabolic acidosis. She had a 7-year history of admissions for severe abdominal pain and was diagnosed with HCP 3 years ago. HCP is a rare disorder that can be complicated by seizures. Many anti-seizure medications can exacerbate acute porphyria attacks. To further complicate management, the anti-seizure drugs of choice in porphyrias are renally excreted and must be adjusted for renal function. Liver transplantation may be a last resort in patients with HCP and seizures.